Yang Jinliang, Yeh Cheng-Ting Eddy, Ramamurthy Raghuprakash Kastoori, Qi Xinshuai, Fernando Rohan L, Dekkers Jack C M, Garrick Dorian J, Nettleton Dan, Schnable Patrick S
Department of Agronomy.
Department of Agronomy and Horticulture, University of Nebraska-Lincoln, Lincoln, NE 68583.
G3 (Bethesda). 2018 Nov 6;8(11):3567-3575. doi: 10.1534/g3.118.200636.
Advances in next generation sequencing technologies and statistical approaches enable genome-wide dissection of phenotypic traits via genome-wide association studies (GWAS). Although multiple statistical approaches for conducting GWAS are available, the power and cross-validation rates of many approaches have been mostly tested using simulated data. Empirical comparisons of single variant (SV) and multi-variant (MV) GWAS approaches have not been conducted to test if a single approach or a combination of SV and MV is effective, through identification and cross-validation of trait-associated loci. In this study, kernel row number (KRN) data were collected from a set of 6,230 entries derived from the Nested Association Mapping (NAM) population and related populations. Three different types of GWAS analyses were performed: 1) single-variant (SV), 2) stepwise regression (STR) and 3) a Bayesian-based multi-variant (BMV) model. Using SV, STR, and BMV models, 257, 300, and 442 KRN-associated variants (KAVs) were identified in the initial GWAS analyses. Of these, 231 KAVs were subjected to genetic validation using three unrelated populations that were not included in the initial GWAS. Genetic validation results suggest that the three GWAS approaches are complementary. Interestingly, KAVs in low recombination regions were more likely to exhibit associations in independent populations than KAVs in recombinationally active regions, probably as a consequence of linkage disequilibrium. The KAVs identified in this study have the potential to enhance our understanding of the genetic basis of ear development.
新一代测序技术和统计方法的进步使得通过全基因组关联研究(GWAS)对表型性状进行全基因组剖析成为可能。尽管有多种用于进行GWAS的统计方法,但许多方法的功效和交叉验证率大多是使用模拟数据进行测试的。尚未进行单变体(SV)和多变体(MV)GWAS方法的实证比较,以通过鉴定和交叉验证性状相关位点来测试单一方法或SV与MV的组合是否有效。在本研究中,从一组由嵌套关联作图(NAM)群体及相关群体衍生而来的6230份材料中收集了穗行数(KRN)数据。进行了三种不同类型的GWAS分析:1)单变体(SV),2)逐步回归(STR)和3)基于贝叶斯的多变体(BMV)模型。使用SV、STR和BMV模型,在初始GWAS分析中分别鉴定出257、300和442个与KRN相关的变体(KAV)。其中,231个KAV使用未包含在初始GWAS中的三个不相关群体进行了遗传验证。遗传验证结果表明这三种GWAS方法具有互补性。有趣的是,低重组区域中的KAV比重组活跃区域中的KAV更有可能在独立群体中表现出关联,这可能是连锁不平衡的结果。本研究中鉴定出的KAV有潜力增进我们对穗发育遗传基础的理解。